Conditions / Syndrome
Bardet-Biedl syndrome 18
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25.
Signs and symptoms
- Stage 5 chronic kidney disease
- Brachydactyly
- Cataract
- Renal insufficiency
- Rod-cone dystrophy
- Obesity
- Retinal dystrophy
- Intellectual disability
Also known as: BBS18